Squalene Synthase Deficiency: Clinical, Biochemical, and Molecular Characterization of a Defect in Cholesterol Biosynthesis
David Coman, Lisenka ELM Vissers, Lisa G Riley, Michael P Kwint, Roxanna Hauck, Janet Koster, Sinje Geuer, Sarah Hopkins, Barbra Hallinan, Larry Sweetman, Udo FH Engelke, T Andrew Burrow, John Cardinal, James McGill, Anita Inwood, Christine Gurnsey, Hans R Waterham, John Christodoulou, Ron A Wevers, James Pitt
American Journal of Human Genetics | CELL PRESS | Published : 2018
The authors would, first and foremost, like to thank the families, without whose participation this work would not have been possible. This work was supported by the Kevin Milo Trust and internal research funds at the Children's Hospital at Westmead. The authors would like to thank the Genome Aggregation Database (gnomAD) and the groups that provided exome and genome variant data to this resource. A full list of contributing groups can be found at http://gnomad.broadinstitute.org/about. The research conducted at the Murdoch Children's Research Institute was supported by the Victorian Government's Operational Infrastructure Support Program.